My patient has an aortic dissection, are there syndromes or disorders that this might be linked to?

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Elsevier ClinicalKey Clinical Overview

Diagnosis Often multifactorial; most common factors include uncontrolled hypertension and inherited susceptibility Hypertension Elevated systolic pressure can propagate an aortic dissection Physical exertion or emotional stress is direct precursor of pain in two-thirds of aortic dissection events; both involve acute changes in blood pressure Genetic syndromes Congenital connective tissue diseases (associated with abnormalities of aortic media) Marfan syndrome Autosomal dominant genetic disorder characterized by weakness of connective tissues (which endangers heart and blood vessels) Aortic dissection occurs in 15% to 50% of patients with Marfan syndrome who are younger than 40 years Ehlers-Danlos syndrome type IV Autosomal dominant genetic disorder characterized by skin hyperextensibility, joint hypermobility, and tissue fragility (which endangers heart and blood vessels) Arterial complications are the leading cause of death Loeys-Dietz syndrome Autosomal dominant genetic disorder characterized by arterial tortuosity, wide-set eyes, cleft palate, and aortic dissection and aneurysm Other familial thoracic aneurysm and dissection syndromes Familial Marfan-like habitus Familial ectopia lentis Familial thoracic aortic aneurysm and dissection Erdheim cystic medial necrosis Congenital contractural arachnodactyly Turner syndrome Phenotypic female with 45,X karyotype May have associated bicuspid aortic valve and/or aortic coarctation

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BraveRman, Alan C., Schermerhorn, Marc (2022). In Braunwald’s Heart Disease: A Textbook of Cardiovascular Medicine (pp. 806). DOI: 10.1016/B978-0-323-72219-3.00042-6

Several conditions predispose the aorta to dissection (Table 42.7), most due to disruption of the integrity of the aortic wall or marked increases in aortic wall circumferential stress (see earlier discussion in the section on TAAs). Some 75% of all patients with aortic dissection have hypertension.Hypertension may affect arterial elastic properties and increase stiffness predisposing to aneurysm or dissection. However, hypertension alone is not usually associated with significant aortic dilation, and only a small minority of hypertensive patients suffer aortic dissection. In the IRAD, conditions associated with dissection included: hypertension (77%), atherosclerosis (27%), previous cardiac surgery (16%), known aortic aneurysm (16%), MFS (5%), iatrogenic (3%), and cocaine use (1.8%). Heritable thoracic aortic aneurysm disease (HTAD) (both syndromic and nonsyndromic), certain congenital heart diseases, inflammatory and infectious aortitis, and cocaine and methamphetamine use are all risk factors for aortic dissection. CMD is often present in aortic dissection but does not elucidate the cause (seeFig. 42.2). Perturbations in cellular signaling pathways and alterations in SMC contractile elements and their environment due to genetic mutations underlie many HTAD at risk for aortic dissection (seeTable 42.2andFig. 42.4).Patients with MFS and other HTAD have a high risk for aortic root and ascending aortic aneurysm and especially for type A aortic dissection. While only present in 1 in 5000 individuals, MFS accounts for approximately 5% of all aortic dissections and a large proportion of aortic dissection in young patients.

Many disorders of the thoracic aorta are related to a genetic or heritable condition (also called heritable TAA [HTAD]), some of which are associated with multisystem features (syndromic) and others with thoracic aortic disease and branch vessel disease alone (nonsyndromic) (Table 42.2).Syndromic HTADs include MFS, LDS, and vEDS. Nonsyndromic HTADs (also called familial TAA disorders) are due to mutations in multiple genes.Up to 20% of individuals with a TAA will have a family history of TAA or will have an affected first-degree relative. These disorders are associated with abnormalities in the aortic media, extracellular matrix proteins, vascular SMCs, or contractile proteins (Fig. 42.4).Clinical features may increase the likelihood of a genetic predisposition to TAA disease (Table 42.3).Turner syndrome (TS), due to a defect in the X chromosome, associates with TAA.Bicuspid aortic valve (BAV), which may be familial, frequently leads to TAA.The timing of prophylactic surgery for aneurysm disease depends onthe specific condition and other factors including genetic mutation, aortic diameter, rate of aortic growth, family history, age, sex, and patient and physician preferences (Table 42.4). MFS, an autosomal dominant disorder of connective tissue, results from abnormal fibrillin-1 due to mutations in theFBN1gene.Aortic dilation in MFS affects most prominently the sinuses of Valsalva (Fig. 42.5,eFig. 42.5) (Videos 42.1and42.2), but distal aortic aneurysms and dissections may occur.

Patients with TS have an estimated 100-fold greater risk for aortic dissection than do age-matched controls.Most women with TS who suffer aortic dissection have risk factors, including aortic dilatation, BAV, coarctation of the aorta, or hypertension (eFig. 42.6). Women with TS but without risk factors for aortic dissection should undergo reevaluation of the aorta every 5 to 10 years or when clinically indicated (such as when contemplating pregnancy).Women with risk factors or known cardiovascular defects require more frequent imaging. Because patients with TS have short stature, ascending aortic dimensions should be evaluated in relation to body surface area. TS patients have increased aortic diameter relative to body surface area and a higher risk for dissection at smaller absolute aortic diameters. EFIGURE 42.6Contrast-enhanced CT scan of a woman with Turner syndrome demonstrating an elongated aortic arch, coarctation of the aorta(white arrow), dilated proximal descending aorta, and acute type B aortic dissection(black arrow). Aortic enlargement and CMD are associated with other congenital heart diseases, including coarctation of the aorta, tetralogy of Fallot, transposition of the great vessels, truncus arteriosus, ventricular septal defect, and tetralogy of Fallot.

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National Library of Medicine (MedlinePlus)

Publish date: January 4, 2015.

Description Aortic aneurysms usually have no symptoms. However, depending on the size, growth rate, and location of these abnormalities, they can cause pain in the jaw, neck, chest, or back; swelling in the arms, neck, or head; difficult or painful swallowing; hoarseness; shortness of breath; wheezing; a chronic cough; or coughing up blood. Aortic dissections usually cause severe, sudden chest or back pain, and may also result in unusually pale skin (pallor), a very faint pulse, numbness or tingling (paresthesias) in one or more limbs, or paralysis. Familial TAAD may not be associated with other signs and symptoms. However, some individuals in affected families show mild features of related conditions called Marfan syndrome or Loeys-Dietz syndrome . These features include tall stature, stretch marks on the skin, an unusually large range of joint movement (joint hypermobility), and either a sunken or protruding chest. Occasionally, people with familial TAAD develop aneurysms in the brain or in the section of the aorta located in the abdomen ( abdominal aorta ). Some people with familial TAAD have heart abnormalities that are present from birth (congenital). Affected individuals may also have a soft out-pouching in the lower abdomen (inguinal hernia ), an abnormal curvature of the spine ( scoliosis ), or a purplish skin discoloration (livedo reticularis) caused by abnormalities in the tiny blood vessels of the skin (dermal capillaries ). However, these conditions are also common in the general population. Depending on the genetic cause of familial TAAD in particular families, they may have an increased risk of developing blockages in smaller arteries, which can lead to heart attack and stroke .